Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Rahul Gupta, Masahiro Kanai, Timothy Durham, Kristin Tsuo, Jason G. McCoy, Anna V. Kotrys, Wei Zhou, Patrick Francis Chinnery, Konrad J. Karczewski, Sarah E. Calvo, Benjamin M. Neale, Vamsi Krishna Mootha
Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.
Nature · Aug 16, 2023Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest